Variant (rsID / SNP)

rs66881636

rs66881636 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB3. Location: chromosome 8, position 87,751,870. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CNGB3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:87751870
Cytoband: 8q21.3
HGVS: NM_019098.5(CNGB3):c.211+13T>G
Allele change: Silent

Associated conditions / phenotypes

Severe early-childhood-onset retinal dystrophy|Achromatopsia 3

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.